Sequence specificity in CpG mutation hotspots
Ollila, J ; Lappalainen, I and Vihinen, Mauno LU
(1996)
In FEBS Letters
396(2-3).
p.119-122
- Abstract
- CpG dinucleotides are efficiently methylated in vertebrate genomes except in the CpG islands having a high C+G content. Methylated CpGs are the single most mutated dinucleotide. Sequences surrounding disease causing CpG mutation sites were analyzed from locus-specific mutation databases. Both tetra- and heptanucleotide analyses indicated clear overall sequence preference for having pyrimidines 5' and purines 3' to the mutated 5-methylcytosine. The most mutated tetranucleotides are TCGA and TCGG, the former being also a frequent restriction and modification site. The results will help in elucidating the still controversial mutation mechanism of CpG doublets.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/3852924
- author
- Ollila, J
; Lappalainen, I
and Vihinen, Mauno
LU
- publishing date
- 1996
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- CpG dinucleotide, CpG suppression, DNA methylation, human mutation, database
- in
- FEBS Letters
- volume
- 396
- issue
- 2-3
- pages
- 119 - 122
- publisher
- Wiley-Blackwell
- external identifiers
-
- wos:A1996VT12700002
- scopus:0030569351
- ISSN
- 1873-3468
- DOI
- 10.1016/0014-5793(96)01075-7
- language
- English
- LU publication?
- no
- id
- 8a871ad9-3cfb-40a8-960e-93f81985902a (old id 3852924)
- date added to LUP
- 2016-04-01 16:00:19
- date last changed
- 2022-01-28 08:38:52
@article{8a871ad9-3cfb-40a8-960e-93f81985902a,
abstract = {{CpG dinucleotides are efficiently methylated in vertebrate genomes except in the CpG islands having a high C+G content. Methylated CpGs are the single most mutated dinucleotide. Sequences surrounding disease causing CpG mutation sites were analyzed from locus-specific mutation databases. Both tetra- and heptanucleotide analyses indicated clear overall sequence preference for having pyrimidines 5' and purines 3' to the mutated 5-methylcytosine. The most mutated tetranucleotides are TCGA and TCGG, the former being also a frequent restriction and modification site. The results will help in elucidating the still controversial mutation mechanism of CpG doublets.}},
author = {{Ollila, J and Lappalainen, I and Vihinen, Mauno}},
issn = {{1873-3468}},
keywords = {{CpG dinucleotide; CpG suppression; DNA methylation; human mutation; database}},
language = {{eng}},
number = {{2-3}},
pages = {{119--122}},
publisher = {{Wiley-Blackwell}},
series = {{FEBS Letters}},
title = {{Sequence specificity in CpG mutation hotspots}},
url = {{http://dx.doi.org/10.1016/0014-5793(96)01075-7}},
doi = {{10.1016/0014-5793(96)01075-7}},
volume = {{396}},
year = {{1996}},
}